Glycogen storage disease type Ia: molecular study in Brazilian patients.
J Hum Genet
; 46(3): 146-9, 2001.
Article
in En
| MEDLINE
| ID: mdl-11310582
ABSTRACT
Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This disease is characterized by growth retardation, hepatomegaly, hypoglycemia, hyperlipidemia, and lactic acidosis. In this study, we report mutations in the G6Pase gene in 8 of 25 Brazilian patients with clinical symptoms of GSDIa. Five previously described mutations (R83C, Q347X, V338F, D38V, and G68R) were detected. The two most common mutations identified were R83C and Q347X, accounting for 8 of 14 (57.14%) mutant alleles. A 1,176 single-nucleotide polymorphism and two intronic mutations (IVS3-58T>A and IVS4+10G>A) were also analyzed. We used the minigene strategy in order to verify the effect of these intronic mutations on the splicing mechanism. This study emphasizes that molecular genetic analysis is a reliable and convenient alternative to the assay of enzyme activity in a fresh liver biopsy specimen for diagnosing GSDIa.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glycogen Storage Disease Type I
/
Glucose-6-Phosphatase
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2001
Document type:
Article
Affiliation country:
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM